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Article

Spanish MYH7 founder mutation of Italian ancestry causing a large cluster of Laing myopathy patients.

Clinical genetics - 1 May 2012

Muelas N, Hackman P, Luque H, Suominen T, Espinós C, Garcés-Sánchez M, Sevilla T, Azorín I, Millán J M, Udd B, Vílchez J J

Abstract excerpt

Laing myopathy is a distal myopathy caused by mutations in the tail of the slow beta-myosin heavy chain gene MYH7. A large cluster of patients belonging to different families, with Laing myopathy due to p.K1729del mutation, was found in the Safor region, Spain. The same mutation was previously re...

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Source

Identifiers

PMID: 21395566
DOI: 10.1111/j.1399-0004.2011.01667.x

Genes

MYH7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-21395566-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Spanish MYH7 founder mutation of Italian ancestry causing a large cluster of Laing myopathy patients.PMID 21395566Read ↗

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